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Published in

Springer Nature [academic journals on nature.com], Journal of Human Genetics, 11(50), p. 604-606, 2005

DOI: 10.1007/s10038-005-0298-9

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E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Hypertension is a main risk factor for atherosclerosis through vascular wall hyperplasia. A recent study reported a new polymorphism (E65 K) in the beta(1) subunit (KCNMB1) gene of the Ca(2+)-dependent potassium channel with a protective effect against the severity of diastolic hypertension, but further data have lead to conflicting results. In order to ascertain the involvement of the E65 K variant in cardiovascular system regulation, the potential association between this mutation and ischaemic heart disease was assessed through a family-based association study (n=302 individuals). Transmission disequilibrium analysis failed to detect any association between this polymorphism and ischaemic heart disease. Although a minor effect cannot be discarded, sample analytical power and negative results do not support a major role for E65 K polymorphism in atherogenic pathologies.